LOC130058894 (ATAC-STARR-seq lymphoblastoid silent region 7412) - Rat Genome Database

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Gene: LOC130058894 (ATAC-STARR-seq lymphoblastoid silent region 7412) Homo sapiens
Analyze
Symbol: LOC130058894
Name: ATAC-STARR-seq lymphoblastoid silent region 7412
RGD ID: 329836928
Description: This genomic sequence represents an accessible chromatin region that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381631,142,485 - 31,142,894 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01631,529,964 - 31,530,373 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:35858748  


Genomics

Variants

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Variants in LOC130058894
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3 copy number gain See cases [RCV000133811] Chr16:30691912..36160463 [GRCh38]
Chr16:30703233..35147508 [GRCh37]
Chr16:30610734..35005009 [NCBI36]
Chr16:16p11.2-11.1		 pathogenic
NM_173502.5(PRSS36):c.1450C>T (p.Pro484Ser) single nucleotide variant Inborn genetic diseases [RCV002749215] Chr16:31142552 [GRCh38]
Chr16:31153873 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
NM_173502.5(PRSS36):c.1516T>G (p.Cys506Gly) single nucleotide variant Inborn genetic diseases [RCV002751651] Chr16:31142486 [GRCh38]
Chr16:31153807 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_173502.5(PRSS36):c.1321G>A (p.Gly441Arg) single nucleotide variant Inborn genetic diseases [RCV002739859] Chr16:31142773 [GRCh38]
Chr16:31154094 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_173502.5(PRSS36):c.1424T>A (p.Leu475Gln) single nucleotide variant Inborn genetic diseases [RCV002930162] Chr16:31142578 [GRCh38]
Chr16:31153899 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_173502.5(PRSS36):c.1403G>A (p.Gly468Asp) single nucleotide variant Inborn genetic diseases [RCV002963938] Chr16:31142599 [GRCh38]
Chr16:31153920 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_173502.5(PRSS36):c.1271C>G (p.Ala424Gly) single nucleotide variant Inborn genetic diseases [RCV002905071] Chr16:31142823 [GRCh38]
Chr16:31154144 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
NM_173502.5(PRSS36):c.1506G>C (p.Glu502Asp) single nucleotide variant Inborn genetic diseases [RCV002648773] Chr16:31142496 [GRCh38]
Chr16:31153817 [GRCh37]
Chr16:16p11.2		 uncertain significance

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130058894 COSMIC
GTEx LOC130058894 GTEx
Human Proteome Map LOC130058894 Human Proteome Map
NCBI Gene LOC130058894 ENTREZGENE